Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
C BarraudB Chabrol

Abstract

Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases.

References

Mar 8, 1975·British Medical Journal·I ChanarinG Stewart
Nov 11, 2006·Acta Haematologica·Erdal TaskinMehmet Kilic
Nov 4, 2008·Pediatrics·Carol L WagnerUNKNOWN American Academy of Pediatrics Committee on Nutrition
Oct 19, 2010·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·J BacchettaP Cochat
Oct 11, 2011·Clinical and Experimental Dermatology·S IsraeliE Sprecher
Feb 7, 2013·Dermatologic Therapy·Philip FleckmanAlbert C Yan
Feb 7, 2013·Dermatologic Therapy·John J DigiovannaJorge R Toro
Jan 15, 2014·Lancet·Charlotte Jane Elder, Nicholas J Bishop
Jun 21, 2014·Archives of Disease in Childhood·Jeremy Allgrove, M Zulf Mughal

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Citations

Jul 10, 2020·Photodermatology, Photoimmunology & Photomedicine·Noureddine LitaiemAmor Khachemoune

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